C0751122[trait identifier] AND "Laboratory of Inherited Metabolic Dise - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 530419	NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val)	LOC102724058, SCN1A (A1938V +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 870160	NM_001165963.4(SCN1A):c.5768A>C (p.Gln1923Pro)	LOC102724058, SCN1A (Q1894P +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 870161	NM_001165963.4(SCN1A):c.5546T>C (p.Leu1849Pro)	LOC102724058, SCN1A (L1821P +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 870155	NM_001165963.4(SCN1A):c.5087del (p.Lys1696fs)	LOC102724058, SCN1A (K1667fs +5 more)	Deletion (frameshift variant +1 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 870153	NM_001165963.4(SCN1A):c.4789_4792del (p.His1597fs)	LOC102724058, SCN1A (H1585fs +5 more)	Deletion (frameshift variant +1 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 870158	NM_001165963.4(SCN1A):c.4428C>G (p.Asn1476Lys)	LOC102724058, SCN1A (N1447K +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 648999	NM_001165963.4(SCN1A):c.4409G>A (p.Gly1470Glu)	LOC102724058, SCN1A (G1470E +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 870154	NM_001165963.4(SCN1A):c.4007T>G (p.Val1336Gly)	LOC102724058, SCN1A (V1308G +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 870157	NM_001165963.4(SCN1A):c.1164delinsGG (p.Tyr388Ter)	SCN1A (Y388*)	Indel (nonsense +2 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 870156	NM_001165963.4(SCN1A):c.689_690insG (p.Ile230fs)	SCN1A (I230fs)	Insertion (frameshift variant +2 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 870159	NM_001165963.4(SCN1A):c.591del (p.Ile198fs)	SCN1A (I198fs)	Deletion (frameshift variant +2 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 836613	NM_001165963.4(SCN1A):c.539T>A (p.Leu180Ter)	SCN1A (L180*)	Single nucleotide variant (nonsense +2 more)	Severe myoclonic epilepsy in infancy +1 more	GPathogenic